Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 166 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P17302 pleiotropic VAR_014097 p.Tyr185His Non-Disease rs2228962 - -
P17302 pleiotropic VAR_015748 p.Ser18Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_014096 p.Ala168Thr Non-Disease rs2228961 - -
P17302 pleiotropic VAR_059017 p.Ser373Gly Non-Disease - - -
P17302 pleiotropic VAR_015759 p.Ile130Thr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_071011 p.Leu106Arg Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_038357 p.Ile31Met Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015750 p.Gly22Glu Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_032925 p.Arg376Gln Disease - - Atrioventricular septal defect 3 (AVSD3) [MIM:600309]
Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]
P17302 pleiotropic VAR_059004 p.Met147Thr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_071010 p.Ser86Tyr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015752 p.Ala40Val Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058992 p.Leu11Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059005 p.Thr154Ala Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058994 p.Gln49Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059003 p.Glu110Asp Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015756 p.Leu90Val Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015751 p.Lys23Thr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015761 p.Gly138Arg Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_038360 p.Lys134Asn Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015747 p.Tyr17Ser Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059002 p.Leu106Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_014095 p.Arg148Gln Non-Disease rs2228960 - -
P17302 pleiotropic VAR_058997 p.Arg76His Disease - - Hallermann-Streiff syndrome (HSS) [MIM:234100]
P17302 pleiotropic VAR_015762 p.Arg202His Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_014100 p.Arg239Trp Non-Disease rs2227887 - -
P17302 pleiotropic VAR_014094 p.Asp124Glu Non-Disease rs2228966 - -
P17302 pleiotropic VAR_014101 p.Pro283Leu Non-Disease rs2228974 - -
P17302 pleiotropic VAR_015758 p.Lys102Asn Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059009 p.Ser201Phe Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015749 p.Gly21Arg Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015764 p.Ala253Val Non-Disease rs17653265 0.006 -
P17302 pleiotropic VAR_058991 p.Leu7Val Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059006 p.Thr154Asn Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058999 p.Val96Ala Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059010 p.Ser220Tyr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_070440 p.Lys206Arg Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_014099 p.Thr204Met Non-Disease rs2228965 - -
P17302 pleiotropic VAR_070441 p.Arg239Gln Disease - - Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]
P17302 pleiotropic VAR_014102 p.Thr290Asn Non-Disease rs2227881 - -
P17302 pleiotropic VAR_014098 p.Arg202Cys Non-Disease rs2228964 - -
P17302 pleiotropic VAR_071009 p.Asp47His Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058996 p.Pro59His Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015760 p.Lys134Glu Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015763 p.Val216Leu Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059000 p.Val96Glu Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_038358 p.Ser69Tyr Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059008 p.His194Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015753 p.Gln49Lys Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_038361 p.Gly143Ser Disease rs28931600 - Syndactyly 3 (SDTY3) [MIM:186100]